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P37058

- DHB3_HUMAN

UniProt

P37058 - DHB3_HUMAN

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Protein

Testosterone 17-beta-dehydrogenase 3

Gene

HSD17B3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Favors the reduction of androstenedione to testosterone. Uses NADPH while the two other EDH17B enzymes use NADH.

Catalytic activityi

Testosterone + NADP+ = androst-4-ene-3,17-dione + NADPH.

Pathwayi

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei185 – 1851SubstrateBy similarity
Active sitei198 – 1981Proton acceptorPROSITE-ProRule annotation

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi48 – 7730NADPBy similarityAdd
BLAST

GO - Molecular functioni

  1. testosterone 17-beta-dehydrogenase (NADP+) activity Source: UniProtKB-EC

GO - Biological processi

  1. androgen biosynthetic process Source: Reactome
  2. male genitalia development Source: ProtInc
  3. small molecule metabolic process Source: Reactome
  4. steroid metabolic process Source: Reactome
  5. testosterone biosynthetic process Source: UniProtKB-UniPathway
Complete GO annotation...

Keywords - Molecular functioni

Oxidoreductase

Keywords - Biological processi

Lipid biosynthesis, Lipid metabolism, Steroid biosynthesis

Keywords - Ligandi

NADP

Enzyme and pathway databases

BioCyciMetaCyc:HS05461-MONOMER.
ReactomeiREACT_11059. Androgen biosynthesis.
REACT_380. Synthesis of very long-chain fatty acyl-CoAs.
UniPathwayiUPA00367.

Names & Taxonomyi

Protein namesi
Recommended name:
Testosterone 17-beta-dehydrogenase 3 (EC:1.1.1.64)
Alternative name(s):
17-beta-hydroxysteroid dehydrogenase type 3
Short name:
17-beta-HSD 3
Testicular 17-beta-hydroxysteroid dehydrogenase
Gene namesi
Name:HSD17B3
Synonyms:EDH17B3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 9

Organism-specific databases

HGNCiHGNC:5212. HSD17B3.

Subcellular locationi

GO - Cellular componenti

  1. endoplasmic reticulum membrane Source: Reactome
  2. intracellular membrane-bounded organelle Source: ProtInc
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Male pseudohermaphrodism with gynecomastia (MPH) [MIM:264300]: These individuals have unambiguous female external genitalia at birth, but fail to menstruate at the time of expected puberty and instead virilize as evidenced by growth of the phallus. Breast development may or may not take place.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti56 – 561A → T in MPH; Cambridge-2. Affects NADPH cofactor binding. 1 Publication
VAR_016067
Natural varianti65 – 651S → L in MPH. 1 Publication
VAR_016068
Natural varianti80 – 801R → Q in MPH; Gaza. 1 Publication
VAR_006953
Natural varianti80 – 801R → W in MPH. 1 Publication
VAR_006954
Natural varianti130 – 1301N → S in MPH; Cambridge-1. Complete loss of activity. 1 Publication
VAR_016069
Natural varianti176 – 1761Q → P in MPH. 1 Publication
VAR_016070
Natural varianti203 – 2031A → V in MPH. 1 Publication
VAR_006955
Natural varianti205 – 2051V → E in MPH. 1 Publication
VAR_016071
Natural varianti208 – 2081F → I in MPH. 1 Publication
VAR_016072
Natural varianti215 – 2151E → D in MPH. 1 Publication
VAR_016203
Natural varianti232 – 2321S → L in MPH. 1 Publication
Corresponds to variant rs28939085 [ dbSNP | Ensembl ].
VAR_006956
Natural varianti235 – 2351M → V in MPH. 1 Publication
VAR_006957
Natural varianti268 – 2681C → Y in MPH; complete loss of activity. 1 Publication
VAR_016073
Natural varianti282 – 2821P → L in MPH. 1 Publication
VAR_016074

Keywords - Diseasei

Disease mutation, Pseudohermaphroditism

Organism-specific databases

MIMi264300. phenotype.
Orphaneti752. 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.
PharmGKBiPA29480.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 310310Testosterone 17-beta-dehydrogenase 3PRO_0000054573Add
BLAST

Proteomic databases

PaxDbiP37058.
PRIDEiP37058.

PTM databases

PhosphoSiteiP37058.

Expressioni

Tissue specificityi

Testis.

Gene expression databases

BgeeiP37058.
CleanExiHS_HSD17B3.
ExpressionAtlasiP37058. baseline and differential.
GenevestigatoriP37058.

Organism-specific databases

HPAiHPA015307.

Interactioni

Protein-protein interaction databases

BioGridi109526. 6 interactions.
IntActiP37058. 1 interaction.
STRINGi9606.ENSP00000364412.

Structurei

3D structure databases

ProteinModelPortaliP37058.
SMRiP37058. Positions 47-256.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiCOG0300.
GeneTreeiENSGT00390000010069.
HOGENOMiHOG000039237.
HOVERGENiHBG005478.
InParanoidiP37058.
KOiK10207.
OMAiCLACLAK.
OrthoDBiEOG7CZK63.
PhylomeDBiP37058.
TreeFamiTF314591.

Family and domain databases

Gene3Di3.40.50.720. 1 hit.
InterProiIPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view]
PfamiPF00106. adh_short. 1 hit.
[Graphical view]
PIRSFiPIRSF000126. 11-beta-HSD1. 1 hit.
PRINTSiPR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEiPS00061. ADH_SHORT. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: P37058-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MGDVLEQFFI LTGLLVCLAC LAKCVRFSRC VLLNYWKVLP KSFLRSMGQW
60 70 80 90 100
AVITGAGDGI GKAYSFELAK RGLNVVLISR TLEKLEAIAT EIERTTGRSV
110 120 130 140 150
KIIQADFTKD DIYEHIKEKL AGLEIGILVN NVGMLPNLLP SHFLNAPDEI
160 170 180 190 200
QSLIHCNITS VVKMTQLILK HMESRQKGLI LNISSGIALF PWPLYSMYSA
210 220 230 240 250
SKAFVCAFSK ALQEEYKAKE VIIQVLTPYA VSTAMTKYLN TNVITKTADE
260 270 280 290 300
FVKESLNYVT IGGETCGCLA HEILAGFLSL IPAWAFYSGA FQRLLLTHYV
310
AYLKLNTKVR
Length:310
Mass (Da):34,516
Last modified:November 1, 1995 - v2
Checksum:i0643FF35ED979185
GO
Isoform 2 (identifier: P37058-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     225-274: Missing.

Note: No experimental confirmation available.

Show »
Length:260
Mass (Da):29,109
Checksum:i81CBF73E81169EF1
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti31 – 311V → I.1 Publication
Corresponds to variant rs2066480 [ dbSNP | Ensembl ].
VAR_014870
Natural varianti56 – 561A → T in MPH; Cambridge-2. Affects NADPH cofactor binding. 1 Publication
VAR_016067
Natural varianti65 – 651S → L in MPH. 1 Publication
VAR_016068
Natural varianti80 – 801R → Q in MPH; Gaza. 1 Publication
VAR_006953
Natural varianti80 – 801R → W in MPH. 1 Publication
VAR_006954
Natural varianti130 – 1301N → S in MPH; Cambridge-1. Complete loss of activity. 1 Publication
VAR_016069
Natural varianti176 – 1761Q → P in MPH. 1 Publication
VAR_016070
Natural varianti203 – 2031A → V in MPH. 1 Publication
VAR_006955
Natural varianti205 – 2051V → E in MPH. 1 Publication
VAR_016071
Natural varianti208 – 2081F → I in MPH. 1 Publication
VAR_016072
Natural varianti215 – 2151E → D in MPH. 1 Publication
VAR_016203
Natural varianti232 – 2321S → L in MPH. 1 Publication
Corresponds to variant rs28939085 [ dbSNP | Ensembl ].
VAR_006956
Natural varianti235 – 2351M → V in MPH. 1 Publication
VAR_006957
Natural varianti268 – 2681C → Y in MPH; complete loss of activity. 1 Publication
VAR_016073
Natural varianti282 – 2821P → L in MPH. 1 Publication
VAR_016074
Natural varianti289 – 2891G → C.
Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
VAR_061844
Natural varianti289 – 2891G → R.
Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
VAR_061845
Natural varianti289 – 2891G → S.2 Publications
Corresponds to variant rs2066479 [ dbSNP | Ensembl ].
VAR_014871

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei225 – 27450Missing in isoform 2. 1 PublicationVSP_056640Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05659 mRNA. Translation: AAC50066.1.
AY341031 Genomic DNA. Translation: AAP88937.1.
BT019371 mRNA. Translation: AAV38178.1.
AL160269 Genomic DNA. No translation available.
BC034281 mRNA. Translation: AAH34281.1.
CCDSiCCDS6716.1. [P37058-1]
PIRiS43928.
RefSeqiNP_000188.1. NM_000197.1. [P37058-1]
UniGeneiHs.477.

Genome annotation databases

EnsembliENST00000375262; ENSP00000364411; ENSG00000130948. [P37058-2]
ENST00000375263; ENSP00000364412; ENSG00000130948. [P37058-1]
GeneIDi3293.
KEGGihsa:3293.
UCSCiuc004awa.1. human. [P37058-1]

Polymorphism databases

DMDMi1169300.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
U05659 mRNA. Translation: AAC50066.1 .
AY341031 Genomic DNA. Translation: AAP88937.1 .
BT019371 mRNA. Translation: AAV38178.1 .
AL160269 Genomic DNA. No translation available.
BC034281 mRNA. Translation: AAH34281.1 .
CCDSi CCDS6716.1. [P37058-1 ]
PIRi S43928.
RefSeqi NP_000188.1. NM_000197.1. [P37058-1 ]
UniGenei Hs.477.

3D structure databases

ProteinModelPortali P37058.
SMRi P37058. Positions 47-256.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 109526. 6 interactions.
IntActi P37058. 1 interaction.
STRINGi 9606.ENSP00000364412.

Chemistry

BindingDBi P37058.
ChEMBLi CHEMBL4234.

PTM databases

PhosphoSitei P37058.

Polymorphism databases

DMDMi 1169300.

Proteomic databases

PaxDbi P37058.
PRIDEi P37058.

Protocols and materials databases

DNASUi 3293.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000375262 ; ENSP00000364411 ; ENSG00000130948 . [P37058-2 ]
ENST00000375263 ; ENSP00000364412 ; ENSG00000130948 . [P37058-1 ]
GeneIDi 3293.
KEGGi hsa:3293.
UCSCi uc004awa.1. human. [P37058-1 ]

Organism-specific databases

CTDi 3293.
GeneCardsi GC09M098998.
HGNCi HGNC:5212. HSD17B3.
HPAi HPA015307.
MIMi 264300. phenotype.
605573. gene.
neXtProti NX_P37058.
Orphaneti 752. 46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency.
PharmGKBi PA29480.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG0300.
GeneTreei ENSGT00390000010069.
HOGENOMi HOG000039237.
HOVERGENi HBG005478.
InParanoidi P37058.
KOi K10207.
OMAi CLACLAK.
OrthoDBi EOG7CZK63.
PhylomeDBi P37058.
TreeFami TF314591.

Enzyme and pathway databases

UniPathwayi UPA00367 .
BioCyci MetaCyc:HS05461-MONOMER.
Reactomei REACT_11059. Androgen biosynthesis.
REACT_380. Synthesis of very long-chain fatty acyl-CoAs.

Miscellaneous databases

GeneWikii HSD17B3_(gene).
GenomeRNAii 3293.
NextBioi 13063.
PROi P37058.
SOURCEi Search...

Gene expression databases

Bgeei P37058.
CleanExi HS_HSD17B3.
ExpressionAtlasi P37058. baseline and differential.
Genevestigatori P37058.

Family and domain databases

Gene3Di 3.40.50.720. 1 hit.
InterProi IPR002198. DH_sc/Rdtase_SDR.
IPR002347. Glc/ribitol_DH.
IPR016040. NAD(P)-bd_dom.
IPR020904. Sc_DH/Rdtase_CS.
[Graphical view ]
Pfami PF00106. adh_short. 1 hit.
[Graphical view ]
PIRSFi PIRSF000126. 11-beta-HSD1. 1 hit.
PRINTSi PR00081. GDHRDH.
PR00080. SDRFAMILY.
PROSITEi PS00061. ADH_SHORT. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Male pseudohermaphroditism caused by mutations of testicular 17 beta-hydroxysteroid dehydrogenase 3."
    Geissler W.M., Davis D.L., Wu L., Bradshaw K.D., Patel S., Mendonca B.B., Elliston K.O., Wilson J.D., Russell D.W., Andersson S.
    Nat. Genet. 7:34-39(1994) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), VARIANTS MPH GLN-80; VAL-203; LEU-232 AND VAL-235.
    Tissue: Testis.
  2. NIEHS SNPs program
    Submitted (JUL-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-31 AND SER-289.
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (OCT-2004) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
  4. "DNA sequence and analysis of human chromosome 9."
    Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., Bagguley C.L.
    , Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., Dunham I.
    Nature 429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Brain.
  6. Cited for: VARIANTS MPH LEU-65; PRO-176; GLU-205; ILE-208; ASP-215 AND LEU-282.
  7. "A novel missense (R80W) mutation in 17-beta-hydroxysteroid dehydrogenase type 3 gene associated with male pseudohermaphroditism."
    Bilbao J.R., Loridan L., Audi L., Gonzalo E., Castano L.
    Eur. J. Endocrinol. 139:330-333(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MPH TRP-80.
  8. "Deleterious missense mutations and silent polymorphism in the human 17beta-hydroxysteroid dehydrogenase 3 gene (HSD17B3)."
    Moghrabi N., Hughes I.A., Dunaif A., Andersson S.
    J. Clin. Endocrinol. Metab. 83:2855-2860(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MPH THR-56 AND SER-130, VARIANT SER-289.
  9. "Substitution mutation C268Y causes 17 beta-hydroxysteroid dehydrogenase 3 deficiency."
    Lindqvist A., Hughes I.A., Andersson S.
    J. Clin. Endocrinol. Metab. 86:921-923(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MPH TYR-268.

Entry informationi

Entry nameiDHB3_HUMAN
AccessioniPrimary (citable) accession number: P37058
Secondary accession number(s): Q5U0Q6
Entry historyi
Integrated into UniProtKB/Swiss-Prot: June 1, 1994
Last sequence update: November 1, 1995
Last modified: November 26, 2014
This is version 149 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PATHWAY comments
    Index of metabolic and biosynthesis pathways
  6. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3